CLCN7
chloride voltage-gated channel 7
Normal Function
Health Conditions Related to Genetic Changes
Osteopetrosis
More than 50 mutations in the CLCN7 gene have been identified in people with osteopetrosis. Mutations in this gene can cause several different forms of the disorder: autosomal recessive osteopetrosis (ARO), which is the most severe form; autosomal dominant osteopetrosis (ADO), which tends to be milder; and a moderate form known as intermediate autosomal osteopetrosis (IAO).
Mutations in the CLCN7 gene impair the function of ClC-7 channels. The defective channels cannot transport chloride ions effectively, which disrupts the regulation of pH in osteoclasts. As a result, osteoclasts are unable to break down bone normally. When old bone is not broken down as new bone is formed, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making them prone to fracture. These problems with bone remodeling underlie all of the major forms of osteopetrosis.
More About This Health ConditionRelated Conditions
Osteopetrosis
Health Conditions Related to Genetic Changes
More than 50 mutations in the CLCN7 gene have been identified in people with osteopetrosis. Mutations in this gene can cause several different forms of the disorder: autosomal recessive osteopetrosis (ARO), which is the most severe form; autosomal dominant osteopetrosis (ADO), which tends to be milder; and a moderate form known as intermediate autosomal osteopetrosis (IAO).
Mutations in the CLCN7 gene impair the function of ClC-7 channels. The defective channels cannot transport chloride ions effectively, which disrupts the regulation of pH in osteoclasts. As a result, osteoclasts are unable to break down bone normally. When old bone is not broken down as new bone is formed, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making them prone to fracture. These problems with bone remodeling underlie all of the major forms of osteopetrosis.